Variant report

Variant	rs5000044
Chromosome Location	chr9:94684763-94684764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94682144..94685075-chr9:94711793..94713631,2	MCF-7	breast:
2	chr9:94664745..94669992-chr9:94681267..94685780,5	K562	blood:
3	chr9:94667170..94669992-chr9:94682219..94685194,2	K562	blood:

Variant related genes	Relation type
ENSG00000169071	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10820926	0.88[EUR][1000 genomes]
rs10820927	0.88[EUR][1000 genomes]
rs10820929	0.88[EUR][1000 genomes]
rs10820935	0.80[EUR][1000 genomes]
rs10992173	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10992176	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10992177	0.96[EUR][1000 genomes]
rs10992178	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10992179	0.88[EUR][1000 genomes]
rs10992180	0.88[EUR][1000 genomes]
rs10992183	0.88[EUR][1000 genomes]
rs10992190	0.88[EUR][1000 genomes]
rs10992212	0.80[EUR][1000 genomes]
rs10992216	0.80[EUR][1000 genomes]
rs10992222	0.80[EUR][1000 genomes]
rs10992230	0.80[EUR][1000 genomes]
rs10992233	0.80[EUR][1000 genomes]
rs11533009	0.80[EUR][1000 genomes]
rs12235309	0.80[EUR][1000 genomes]
rs12235310	0.80[EUR][1000 genomes]
rs12235495	0.80[EUR][1000 genomes]
rs12236121	0.88[EUR][1000 genomes]
rs12237598	0.80[EUR][1000 genomes]
rs12238682	0.80[EUR][1000 genomes]
rs12684752	0.81[AMR][1000 genomes]
rs16907979	0.81[AMR][1000 genomes]
rs16908003	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16908021	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16908135	0.80[EUR][1000 genomes]
rs16908137	0.80[EUR][1000 genomes]
rs1892267	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1892269	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2096388	0.80[EUR][1000 genomes]
rs5000045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58909848	0.80[EUR][1000 genomes]
rs59114373	0.80[EUR][1000 genomes]
rs59183854	0.80[EUR][1000 genomes]
rs59856128	0.80[EUR][1000 genomes]
rs7022553	0.80[EUR][1000 genomes]
rs7033030	0.80[EUR][1000 genomes]
rs7033397	0.80[AMR][1000 genomes]
rs7036525	0.80[AMR][1000 genomes]
rs7042585	0.81[AMR][1000 genomes]
rs7849220	0.80[EUR][1000 genomes]
rs7862826	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv530946	chr9:94633154-94715023	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94670600-94686200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:94678000-94685000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr9:94678200-94686600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:94678800-94686200	Weak transcription	Ovary	ovary
5	chr9:94681400-94691400	Weak transcription	Pancreas	Pancrea
6	chr9:94683000-94687200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr9:94683400-94686200	Weak transcription	Gastric	stomach
8	chr9:94683600-94685200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:94683600-94685200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr9:94683600-94685200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr9:94683600-94686000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:94683600-94691800	Weak transcription	Fetal Lung	lung
13	chr9:94683600-94692000	Weak transcription	K562	blood
14	chr9:94683800-94685800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr9:94683800-94685800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr9:94684000-94684800	Weak transcription	Fetal Stomach	stomach
17	chr9:94684000-94686000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:94684200-94686600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:94684400-94686400	Enhancers	Colon Smooth Muscle	Colon
20	chr9:94684600-94686000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr9:94684600-94686000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:94684600-94686000	Weak transcription	Stomach Smooth Muscle	stomach

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